A Rare Case of Adult-Onset Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Normal Lactate

AIMS& amp; OBJECTIVES: To review the clinical presentation and imaging findings in detection of Adult-Onset Leukoencephalopathy With Brain Stem And Spinal Cord involvement and Normal Lactate Levels MATERIALS& amp; METHODS: A 19 year old female patient, presented with complaints of sudden onset of paraplegia, with gait spasticity and fever for a duration of two weeks prior to the scan. Patient underwent MRI Brain and Spine. RESULT: Patient underwent MRI Brain and spine and showed confluent T2, FLAIR and restricted diffusion symmetrical hyperintensities in periventricular, peritrigonal, corpus callosum, cerebral white matter ( sparing of subcortical U fibres), internal capsule, brainstem ( pyramidal and medial leminiscus) on both sides in brain. Ill defined T2, FLAIR and Diffusion weighted hyperintensities were seen in the dorsal columns and lateral corticospinal tracts over the entire length of spinal cord. MRS showed normal lactate levels. CONCLUSION: LBSL is a recently described rare autosomal recessive disorder with gradual onset, usually in childhood or adolescence, but occasionally in adulthood. It is caused by mutations in DARS2 gene on chromosome 1, encoding mitochondrial aspartyl tRNA synthase. MRI findings often suggest the diagnosis. For an MRI-based diagnosis of LBSL, all the major criteria and one of the supportive criteria need to be fulfilled. Major criteria - signal abnormalities in the following: (1) cerebral white matter, which is either nonhomogeneous and spotty or homogeneous and confluent, with relative sparing of the& #039; U& #039; fibers; (2) dorsal columns and lateral corticospinal tracts of the spinal cord; (3) pyramids in the medulla oblongata. Supportive criteria: signal abnormalities in splenium of the corpus callosum, posterior limb of the internal capsule, medial lemniscus in the brainstem, superior cerebellar peduncles, inferior cerebellar peduncles, intraparenchymal part of the trigeminal nerve, mesencephalic trigeminal tracts, anterior spinocerebellar tracts in the medulla, cerebellar white matter with subcortical preponderance.